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검색어 : 통합검색[Human molecular genetics 3]

3,414건 중 1,000건 출력

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  • 811
    Genetics of sex determination in man and mouse
    Goodfellow, P. N.; Darling, S. M.; 1 Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, Lincoln’s Inn Fields, London WC2A 3PX, UK; Mount Sinai Hospital Research Institute 2 , 600 University Avenue, Toronto, Ontario M5G 1X5, Canada; (Development, v.102, 1988, pp.251-258)
  • 812
    SDHAF2 (PGL2-SDH5) and Hereditary Head and Neck Paraganglioma
    Kunst, Henricus P.M.; Rutten, Martijn H.; de Mö nnink, Jan-Pieter; Hoefsloot, Lies H.; Timmers, Henri J.L.M.; Marres, Henri A.M.; Jansen, Jeroen C.; Kremer, Hannie; Bayley, Jean-Pierre; Cremers, Cor W.R.J.; Authors' Affiliations: Departments of 1Otorhinolaryngology, Head and Neck Surgery, 2Human Genetics, and 3Endocrinology, Radboud University Nijmegen Medical Center, and 4Donders Institute for Brain, Cognition and Behavior and 5Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands; 6Department of Otorhinolaryngology, Maxima Medical Centre, Eindhoven, the Netherlands; and Departments of 7Otorhinolaryngology and 8Human Genetics, Leiden University Medical Center, Leiden, the Netherlands; Authors' Affiliations: Departments of 1Otorhinolaryngology, Head and Neck Surgery, 2Human Genetics, and 3Endocrinology, Radboud University Nijmegen Medical Center, and 4Donders Institute for Brain, Cognition and Behavior and 5Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands; 6Department of Otorhinolaryngology, Maxima Medical Centre, Eindhoven, the Netherlands; and Departments of 7Otorhinolaryngology and 8Human; (Clinical Cancer research : an official journal of the American Association for Cancer Research, v.17, 2011, pp.247-254)
  • 813
    Frequent epigenetic inactivation of the SLIT2 gene in gliomas
    Dallol, Ashraf; Krex, Dietmar; Hesson, Luke; Eng, Charis; Maher, Eamonn R; Latif, Farida; 1Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK; 2Department of Neurosurgery, Universitä tsklinikum Carl Gustav Carus Technische Universitä t Dresden, Fetscherstraße 74, 01307 Dresden, Germany; 1Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK; 3Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and the Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA; [1] 1Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK [2] 4Cancer Research UK, Renal Molecular Oncology Research Group, University of Birmingham, Birmingham B15 2TG, UK; [1] 1Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of; (Oncogene, v.22, 2003, pp.4611-4616)
  • 814
    Cbfβ interacts with Runx2 and has a critical role in bone development
    Kundu, Mondira; Javed, Amjad; Jeon, Jae-Pil; Horner, Alan; Shum, Lillian; Eckhaus, Michael; Muenke, Maximilian; Lian, Jane B.; Yang, Yingzi; Nuckolls, Glen H.; Stein, Gary S.; Liu, P. Paul; Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 3A26, Bethesda, Maryland 20892, USA.; Department of Cell Biology, University of Massachusetts, Worcester, Massachusetts, USA.; Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 3A26, Bethesda, Maryland 20892, USA.; Cartilage Biology and Orthopaedics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.; Cartilage Biology and Orthopaedics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.; Veterinary Resources Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; (Nature genetics, v.32, 2002, pp.639-644)
  • 815
    Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome
    Schoumans, Jacqueline; Nordgren, Ann; Ruivenkamp, Claudia; Brøndum-Nielsen, Karen; Teh, Bin Tean; Anné ren, Gö ran; Holmberg, Eva; Nordenskjö ld, Magnus; Anderlid, Britt-Marie; 1Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden; [1] 1Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden [2] 2Department of Clinical Genetics, Umeå University Hospital, Sweden; [1] 1Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden [2] 3Department of Human and Clinical Genetics, LUMC, Leiden, The Netherlands; 4John F Kennedy Institute, Glostrup, Denmark; 5Laboratory of Cancer Genetics, Van Andel Research Institute, Grand Rapids, MI, USA; 6Department of Clinical Genetics, Uppsala University Children's Hospital, Sweden; 7Department of Clinical Genetics, Sahlgrenska University Hospital/East, Gothenburg, Sweden; 1Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden; 1Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden; (European journal of human genetics : EJHG, v.13, 2005, pp.260-263)
  • 816
    THE GENETICS OF AN EXPANDED SECRETOR SYSTEM
    Kimberling, W. J.; ; (Journal of immunogenetics, v.6, 1979, pp.75-82)
  • 817
    Whole-gene <i>APC</i> deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or “multiple” colorectal adenomas
    Sieber, O. M.; Lamlum, H.; Crabtree, M. D.; Rowan, A. J.; Barclay, E.; Lipton, L.; Hodgson, S.; Thomas, H. J. W.; Neale, K.; Phillips, R. K. S.; Farrington, S. M.; Dunlop, M. G.; Mueller, H. J.; Bisgaard, M. L.; Bulow, S.; Fidalgo, P.; Albuquerque, C.; Scarano, M. I.; Bodmer, W.; Tomlinson, I. P. M.; Heinimann, K.; Molecular and Population Genetics Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, United Kingdom; Imperial Cancer Research Fund Colorectal Unit and Polyposis Registry, St. Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, United Kingdom; Department of Clinical Genetics, Guy's Hospital, London SE1 9RT, United Kingdom; University of Edinburgh and Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, United...; Molecular and Population Genetics Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, United Kingdom; Imperial Cancer Research Fund Colorectal Unit and Polyposis Registry, St. Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, United Kingdom; Department of Clinical Genetics, Guy's Hospital, London SE1 9RT, United Kingdom; University of Edinburgh and Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU; (Proceedings of the National Academy of Sciences of the United States of America, v.99, 2002, pp.2954-2958)
  • 818
    PepSite: prediction of peptide-binding sites from protein surfaces
    Trabuco, Leonardo G.; Lise, Stefano; Petsalaki, Evangelia; Russell, Robert B.; CellNetworks, University of Heidelberg, 69120 Heidelberg, Germany, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, Centre for Systems Biology, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, M5G 1X5, Canada and Department of Molecular Genetics, University of Toronto, Toronto, M5S 1A8, Canada; CellNetworks, University of Heidelberg, 69120 Heidelberg, Germany, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, Centre for Systems Biology, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, M5G 1X5, Canada and Department of Molecular Genetics, University of Toronto, Toronto, M5S 1A8, Canada; CellNetworks, University of Heidelberg, 69120 Heidelberg, Germany, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, Centre for Systems Biology, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, M5G 1X5, Canada and Department of Molec; (Nucleic acids research, v.40, 2012, pp.W423-W427)
  • 819
    A first trial of retrospective collaboration for positional cloning in complex inheritance: Assay of the cytokine region on chromosome 5 by the Consortium on Asthma Genetics (COAG)
    Lonjou, C.; Barnes, K.; Chen, H.; Cookson, W. O. C. M.; Deichmann, K. A.; Hall, I. P.; Holloway, J. W.; Laitinen, T.; Palmer, L. J.; Wjst, M.; Morton, N. E.; Human Genetics Research Division, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, United Kingdom, for the Consortium on Asthma Genetics (COAG); Johns Hopkins University, Baltimore, MD 21224; Department of Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China; Asthma Genetics Group, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom; Childrens' Hospital,...; Human Genetics Research Division, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, United Kingdom, for the Consortium on Asthma Genetics (COAG); Johns Hopkins University, Baltimore, MD 21224; Department of Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China; Asthma Genetics Group, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom; Childrens' Hospital,...; ; (Proceedings of the National Academy of Sciences of the United States of America, v.97, 2000, pp.10942-10947)
  • 820
    Human Male Infertility Associated with Mutations in <i>NR5A1</i>Encoding Steroidogenic Factor 1
    Bashamboo, Anu; Ferraz-de-Souza, Bruno; Lourenç o, Diana; Lin, Lin; Sebire, Neil J.; Montjean, Debbie; Bignon-Topalovic, Joelle; Mandelbaum, Jacqueline; Siffroi, Jean-Pierre; Christin-Maitre, Sophie; Radhakrishna, Uppala; Rouba, Hassan; Ravel, Celia; Seeler, Jacob; Achermann, John C.; McElreavey, Ken; Human Developmental Genetics, Institut Pasteur, 75724 Paris, France; Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK; Human Developmental Genetics, Institut Pasteur, 75724 Paris, France; Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK; Department of Paediatric Histopathology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK; Human Developmental Genetics, Institut Pasteur, 75724 Paris, France; Human Developmental Genetics, Institut Pasteur, 75724 Paris, France; UPMC, APHP Hô pital Tenon Service d'Histologie et de Biologie de la Reproduction, Paris 75020, France; APHP-ER9 UPMC Service de Gé né tique et d'Embryologie Mé dicales, Hô pital Armand Trousseau, Paris 75012, France; Service d'Endocrinologie, Hô pital Saint-Antoine, Paris 75012, France; The Cancer Center, C; (American journal of human genetics, v.87, 2010, pp.736-736)

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